Autosomal recessive hereditary disorder
Complement regulatory factor defect
Coombs negative hemolytic anemia
Hemoglobin low
Hereditary disorder of immune system
Hereditary disorder of nervous system
Hereditary red blood cell disorder
Peripheral nerve disease
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Primary CD59 deficiency (disorder)
Primary CD59 deficiency
A rare genetic hematologic and neurologic disease characterized by chronic Coombs-negative hemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).
primaire CD59-deficiëntie
Id778027003
StatusPrimitive
Has interpretationBelow reference range
InterpretsMeasurement of total hemoglobin concentration
Has interpretationBelow reference range
InterpretsRed blood cell count
Finding sitePeripheral nerve structure
Finding siteErythrocyte
Finding siteStructure of immune system
Has interpretationPresent
InterpretsHemolysis
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD84.1
RuleTRUE
AdviceALWAYS D84.1
CorrelationSNOMED CT source code to target map code correlation not specified